Autism risk in offspring can be assessed through quantification of male sperm mosaicism
Breuss, Martin W., Antaki, Danny, George, Renee D., Kleiber, Morgan, James, Kiely N., Ball, Laurel L., Hong, Oanh, Mitra, Ileena, Yang, Xiaoxu, Wirth, Sara A., Gu, Jing, Garcia, Camila A. B., Gujral, Madhusudan, Brandler, William M., Musaev, Damir, Nguyen, An, McEvoy-Venneri, Jennifer, Knox, Renatta, Sticca, Evan, Botello, Martha Cristina Cancino, Uribe Fenner, Javiera, Pérez, Maria Cárcel, Arranz, Maria, Moffitt, Andrea B., Wang, Zihua, Hervás, Amaia, Devinsky, Orrin, Gymrek, Melissa, Sebat, Jonathan, Gleeson, Joseph G.
Published in Nature medicine (01.01.2020)
Published in Nature medicine (01.01.2020)
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Mechanism for Selective Synaptic Wiring of Rod Photoreceptors into the Retinal Circuitry and Its Role in Vision
Cao, Yan, Sarria, Ignacio, Fehlhaber, Katherine E., Kamasawa, Naomi, Orlandi, Cesare, James, Kiely N., Hazen, Jennifer L., Gardner, Matthew R., Farzan, Michael, Lee, Amy, Baker, Sheila, Baldwin, Kristin, Sampath, Alapakkam P., Martemyanov, Kirill A.
Published in Neuron (Cambridge, Mass.) (23.09.2015)
Published in Neuron (Cambridge, Mass.) (23.09.2015)
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Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly
Breuss, Martin W., Sultan, Tipu, James, Kiely N., Rosti, Rasim O., Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S., Reuter, Miriam S., Abou Jamra, Rami, Trotta, Christopher R., Gleeson, Joseph G.
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
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Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome
Breuss, Martin W., Nguyen, An, Song, Qiong, Nguyen, Thai, Stanley, Valentina, James, Kiely N., Musaev, Damir, Chai, Guoliang, Wirth, Sara A., Anzenberg, Paula, George, Renee D., Johansen, Anide, Ali, Shaila, Zia-ur-Rehman, Muhammad, Sultan, Tipu, Zaki, Maha S., Gleeson, Joseph G.
Published in American journal of human genetics (02.08.2018)
Published in American journal of human genetics (02.08.2018)
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Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
Friedman, Jennifer, Smith, Desiree E., Issa, Mahmoud Y., Stanley, Valentina, Wang, Rengang, Mendes, Marisa I., Wright, Meredith S., Wigby, Kristen, Hildreth, Amber, Crawford, John R., Koehler, Alanna E., Chowdhury, Shimul, Nahas, Shareef, Zhai, Liting, Xu, Zhiwen, Lo, Wing-Sze, James, Kiely N., Musaev, Damir, Accogli, Andrea, Guerrero, Kether, Tran, Luan T., Omar, Tarek E. I., Ben-Omran, Tawfeg, Dimmock, David, Kingsmore, Stephen F., Salomons, Gajja S., Zaki, Maha S., Bernard, Geneviève, Gleeson, Joseph G.
Published in Nature communications (12.02.2019)
Published in Nature communications (12.02.2019)
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Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians
Segal, Michael M, George, Renee, Waltman, Peter, El-Hattab, Ayman W, James, Kiely N, Stanley, Valentina, Gleeson, Joseph
Published in Orphanet journal of rare diseases (22.07.2020)
Published in Orphanet journal of rare diseases (22.07.2020)
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Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses
James, Kiely N., Clark, Michelle M., Camp, Brandon, Kint, Cyrielle, Schols, Peter, Batalov, Sergey, Briggs, Benjamin, Veeraraghavan, Narayanan, Chowdhury, Shimul, Kingsmore, Stephen F.
Published in Npj genomic medicine (11.08.2020)
Published in Npj genomic medicine (11.08.2020)
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Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival
Coulter, Michael E., Musaev, Damir, DeGennaro, Ellen M., Zhang, Xiaochang, Henke, Katrin, James, Kiely N., Smith, Richard S., Hill, R. Sean, Partlow, Jennifer N., Muna Al-Saffar, Kamumbu, A. Stacy, Hatem, Nicole, Barkovich, A. James, Aziza, Jacqueline, Chassaing, Nicolas, Zaki, Maha S., Sultan, Tipu, Burglen, Lydie, Rajab, Anna, Al-Gazali, Lihadh, Mochida, Ganeshwaran H., Harris, Matthew P., Gleeson, Joseph G., Walsh, Christopher A.
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
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Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly
Breuss, Martin W., Sultan, Tipu, James, Kiely N., Rosti, Rasim O., Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S., Reuter, Miriam S., Abou Jamra, Rami, Trotta, Christopher R., Gleeson, Joseph G.
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly
Garcia, Camila A. B., Carvalho, Simone C. S., Yang, Xiaoxu, Ball, Laurel L., George, Renee D., James, Kiely N., Stanley, Valentina, Breuss, Martin W., Thomé, Ursula, Santos, Marcelo V., Saggioro, Fabiano P., Neder Serafini, Luciano, Silva, Wilson A., Gleeson, Joseph G., Machado, Hélio R.
Published in Epilepsia open (01.03.2020)
Published in Epilepsia open (01.03.2020)
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Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers
Verdonschot, Job A. J., Robinson, Emma L., James, Kiely N., Mohamed, Mohamed W., Claes, Godelieve R. F., Casas, Kari, Vanhoutte, Els K., Hazebroek, Mark R., Kringlen, Gabriel, Pasierb, Michele M., Wijngaard, Arthur, Glatz, Jan F. C., Heymans, Stephane R. B., Krapels, Ingrid P. C., Nahas, Shareef, Brunner, Han G., Szklarczyk, Radek
Published in Molecular genetics & genomic medicine (01.02.2020)
Published in Molecular genetics & genomic medicine (01.02.2020)
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Artificial Intelligence in the Genetic Diagnosis of Rare Disease
James, Kiely N, Phadke, Sujal, Wong, Terence C, Chowdhury, Shimul
Published in Clinics in laboratory medicine (01.03.2023)
Published in Clinics in laboratory medicine (01.03.2023)
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Developmental and temporal characteristics of clonal sperm mosaicism
Yang, Xiaoxu, Breuss, Martin W., Xu, Xin, Antaki, Danny, James, Kiely N., Stanley, Valentina, Ball, Laurel L., George, Renee D., Wirth, Sara A., Cao, Beibei, Nguyen, An, McEvoy-Venneri, Jennifer, Chai, Guoliang, Nahas, Shareef, Van Der Kraan, Lucitia, Ding, Yan, Sebat, Jonathan, Gleeson, Joseph G.
Published in Cell (02.09.2021)
Published in Cell (02.09.2021)
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Functional sensory circuits built from neurons of two species
Throesch, Benjamin T., bin Imtiaz, Muhammad Khadeesh, Muñoz-Castañeda, Rodrigo, Sakurai, Masahiro, Hartzell, Andrea L., James, Kiely N., Rodriguez, Alberto R., Martin, Greg, Lippi, Giordano, Kupriyanov, Sergey, Wu, Zhuhao, Osten, Pavel, Izpisua Belmonte, Juan Carlos, Wu, Jun, Baldwin, Kristin K.
Published in Cell (25.04.2024)
Published in Cell (25.04.2024)
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MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive c erebellar, o cular, cranio f acial and g enital features (COFG syndrome)
Rad, Abolfazl, Altunoglu, Umut, Miller, Rebecca, Maroofian, Reza, James, Kiely N, Çağlayan, Ahmet Okay, Najafi, Maryam, Stanley, Valentina, Boustany, Rose-Mary, Yeşil, Gözde, Sahebzamani, Afsaneh, Ercan-Sencicek, Gülhan, Saeidi, Kolsoum, Wu, Kaman, Bauer, Peter, Bakey, Zeineb, Gleeson, Joseph G, Hauser, Natalie, Gunel, Murat, Kayserili, Hulya, Schmidts, Miriam
Published in Journal of medical genetics (01.05.2019)
Published in Journal of medical genetics (01.05.2019)
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Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
Schaffer, Ashleigh E., Breuss, Martin W., Caglayan, Ahmet Okay, Al-Sanaa, Nouriya, Al-Abdulwahed, Hind Y., Kaymakçalan, Hande, Yılmaz, Cahide, Zaki, Maha S., Rosti, Rasim O., Copeland, Brett, Baek, Seung Tae, Musaev, Damir, Scott, Eric C., Ben-Omran, Tawfeg, Kariminejad, Ariana, Kayserili, Hulya, Mojahedi, Faezeh, Kara, Majdi, Cai, Na, Silhavy, Jennifer L., Elsharif, Seham, Fenercioglu, Elif, Barshop, Bruce A., Kara, Bulent, Wang, Rengang, Stanley, Valentina, James, Kiely N., Nachnani, Rahul, Kalur, Aneesha, Megahed, Hisham, Incecik, Faruk, Danda, Sumita, Alanay, Yasemin, Faqeih, Eissa, Melikishvili, Gia, Mansour, Lobna, Miller, Ian, Sukhudyan, Biayna, Chelly, Jamel, Dobyns, William B., Bilguvar, Kaya, Jamra, Rami Abou, Gunel, Murat, Gleeson, Joseph G.
Published in Nature genetics (01.08.2018)
Published in Nature genetics (01.08.2018)
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MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)
Rad, Abolfazl, Altunoglu, Umut, Miller, Rebecca, Maroofian, Reza, James, Kiely N, Çağlayan, Ahmet Okay, Najafi, Maryam, Stanley, Valentina, Boustany, Rose-Mary, Yeşil, Gözde, Sahebzamani, Afsaneh, Ercan-Sencicek, Gülhan, Saeidi, Kolsoum, Wu, Kaman, Bauer, Peter, Bakey, Zeineb, Gleeson, Joseph G, Hauser, Natalie, Gunel, Murat, Kayserili, Hulya, Schmidts, Miriam
Published in Journal of medical genetics (01.05.2019)
Published in Journal of medical genetics (01.05.2019)
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Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations
James, Kiely N, Chowdhury, Shimul, Ding, Yan, Batalov, Sergey, Watkins, Kelly, Kwon, Yong Hyun, Van Der Kraan, Lucitia, Ellsworth, Katarzyna, Kingsmore, Stephen F, Guidugli, Lucia
Published in Genetics in medicine (01.01.2024)
Published in Genetics in medicine (01.01.2024)
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Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy
Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Mobilio, Sabrina, Niceta, Marcello, Zampino, Giuseppe, Philippe, Christophe, Moutton, Sébastien, Zaki, Maha S., James, Kiely N., Musaev, Damir, Mu, Weiyi, Baranano, Kristin, Nance, Jessica R., Rosenfeld, Jill A., Braverman, Nancy, Ciolfi, Andrea, Millan, Francisca, Person, Richard E., Bruel, Ange-Line, Thauvin-Robinet, Christel, Ververi, Athina, DeVile, Catherine, Male, Alison, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Maqbool, Shazia, Rahman, Fatima, Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Elrick, Matthew J., Anselm, Irina, Rodan, Lance H., Tartaglia, Marco, Gleeson, Joseph, Kinoshita, Taroh, Campeau, Philippe M.
Published in American journal of human genetics (02.04.2020)
Published in American journal of human genetics (02.04.2020)
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